Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
NM_001145678.3
p.L17S
c.50T>C
NM_001145678.3
p.Q198fs
c.592_593fs
NM_001145678.3
p.K725*
c.2173A>T
NM_001145678.3
p.Q197insFs
c.591dupA
NM_001145678.3
p.K749Splc
c.2247-2A>G
NM_001145678.3
p.C48fs
c.142_143fs
NM_001145678.3
p.C48delFs
c.143delC
NM_001145678.3
p.E664K
c.1990G>A
NM_001145678.3
p.R681H
c.2042G>A
NM_001145678.3
p.F1005I
c.3013T>A
NM_001145678.3
p.M1R
c.2T>G
NM_001145678.3
p.M1T
c.2T>C